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Fusion gene ID: 11206 |
FusionGeneSummary for EIF2AK4_AVEN |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: EIF2AK4_AVEN | Fusion gene ID: 11206 | Hgene | Tgene | Gene symbol | EIF2AK4 | AVEN | Gene ID | 440275 | 57099 |
| Gene name | eukaryotic translation initiation factor 2 alpha kinase 4 | apoptosis and caspase activation inhibitor | |
| Synonyms | GCN2|PVOD2 | PDCD12 | |
| Cytomap | 15q15.1 | 15q14 | |
| Type of gene | protein-coding | protein-coding | |
| Description | eIF-2-alpha kinase GCN2GCN2 eIF2alpha kinaseGCN2-like proteingeneral control nonderepressible 2 | cell death regulator Avenapoptosis, caspase activation inhibitorprogrammed cell death 12 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9P2K8 | Q9NQS1 | |
| Ensembl transtripts involved in fusion gene | ENST00000559624, ENST00000382727, ENST00000263791, ENST00000560648, ENST00000559311, | ENST00000306730, ENST00000558136, | |
| Fusion gene scores | * DoF score | 10 X 10 X 9=900 | 4 X 2 X 4=32 |
| # samples | 11 | 4 | |
| ** MAII score | log2(11/900*10)=-3.03242147769238 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: EIF2AK4 [Title/Abstract] AND AVEN [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Tgene | AVEN | GO:0043066 | negative regulation of apoptotic process | 10949025 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | LUAD | TCGA-93-A4JQ-01A | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3CDS | ENST00000559624 | ENST00000306730 | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
| intron-5UTR | ENST00000559624 | ENST00000558136 | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
| Frame-shift | ENST00000382727 | ENST00000306730 | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
| 5CDS-5UTR | ENST00000382727 | ENST00000558136 | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
| Frame-shift | ENST00000263791 | ENST00000306730 | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
| 5CDS-5UTR | ENST00000263791 | ENST00000558136 | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
| intron-3CDS | ENST00000560648 | ENST00000306730 | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
| intron-5UTR | ENST00000560648 | ENST00000558136 | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
| 3UTR-3CDS | ENST00000559311 | ENST00000306730 | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
| 3UTR-5UTR | ENST00000559311 | ENST00000558136 | EIF2AK4 | chr15 | 40294989 | + | AVEN | chr15 | 34160056 | - |
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FusionProtFeatures for EIF2AK4_AVEN |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| EIF2AK4 | AVEN |
| Protects against apoptosis mediated by Apaf-1. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for EIF2AK4_AVEN |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for EIF2AK4_AVEN |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| EIF2AK4 | USP46, GGNBP1, ARRB2, TRAP1, FAM153B, PPP1CC, PPP1CA, CROT, TARS, MATR3, LRPPRC, DEF8, TKT, PALM2, PSMC3, MDM4, C6orf141, CRYL1 | AVEN | BCL2L1, BCL2, APAF1, MOV10, NXF1, XPO1, HNRNPU, RPL10 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for EIF2AK4_AVEN |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for EIF2AK4_AVEN |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | EIF2AK4 | C0002514 | Amino Acid Metabolism, Inborn Errors | 1 | CTD_human |
| Hgene | EIF2AK4 | C0018500 | Hair Diseases | 1 | CTD_human |
| Hgene | EIF2AK4 | C0020542 | Pulmonary Hypertension | 1 | CTD_human |
| Hgene | EIF2AK4 | C0021053 | Immune System Diseases | 1 | CTD_human |
| Hgene | EIF2AK4 | C0026848 | Myopathy | 1 | CTD_human |
| Hgene | EIF2AK4 | C0034091 | Pulmonary Veno-Occlusive Disease (disorder) | 1 | CTD_human;ORPHANET |
| Hgene | EIF2AK4 | C0340848 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE | 1 | UNIPROT |
| Tgene | AVEN | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
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